Precision Medicine: What's It Worth?

Experts say it's the future, but the cost and the road ahead remain murky.

During last week's State of the Union address, President Obama briefly highlighted a new "Precision Medicine Initiative," a project focused on developing more personalized therapies to treat illness. A White House press release described the approach as one that "takes into account individual differences in people's genes, environments, and lifestyles, making it possible to design highly effective, targeted treatments for cancer and other diseases."

In his speech the president spoke of advances in genetic technology that have dramatically enhanced the treatment of inherited diseases like cystic fibrosis, which he described as "a disease once thought unstoppable."

Obama suggested that advances in more common diseases were possible and implied that everyone can benefit from more individualized, genomic-based care.

"Tonight, I'm launching a new Precision Medicine Initiative to bring us closer to curing diseases like cancer and diabetes -- and to give all of us access to the personalized information we need to keep ourselves and our families healthier," he said.

Not content to let the president set the agenda unilaterally, House members this week announced their own plan called 21st Century Cures, a bipartisan initiative developed by Energy and Commerce chairman Fred Upton (R-Mich.) and Rep. Diana DeGette (D-Colo.).

The committee released a draft proposal "focused heavily on cutting red tape from the Food and Drug Administration's processes, doling out more funds for research, and safeguarding the medical device industry," according to The Hill.

However, neither plan has yet been fleshed out with budgets, specific research areas, or timelines in which to expect real impacts on clinical medicine.

MedPage Today contacted health policy and genetics specialists for their views on precision medicine, as currently practiced and how it could evolve with dedicated government support.

The Promise

Richard Weinshilboum, MD, acting director of the Mayo Clinic Center for Individualized Medicine in Rochester, Minn., said, "The big vision is to bring genomic science to the bedside to better care for patients, to better diagnose their disease, better individualize their treatment, and to eventually prevent their disease in the first place."

Using genome and exome sequencing (a type of sequencing that maps only the genes that code for proteins), researchers can identify gene variants they believe predispose a person towards illness or help to trigger the disease. Industries can build on this knowledge to develop therapies that target these mutations.

One example is cystic fibrosis, a genetic disorder in which problems with a dysfunctional ion channel in certain cells cause accumulations of thick mucus in the lungs, the pancreatic ducts, and other organs. In some areas of the body this mucus is prone to bacterial infection, explained Bruce Blumberg, MD, a geneticist and director of graduate medical education for Kaiser Permanente Northern California.

Researchers funded in part by the Cystic Fibrosis Foundation developed a drug, ivacaftor (Kalydeco), that repaired the malfunctioning ion channel and prevented the mucus from clogging the lungs and critical ducts, such as those in the pancreas.

"However, in the majority of cystic fibrosis cases, this ion channel never even rises to the surface of the cell," he said. "So the drug doesn't work in those cases."

Ivacaftor is only effective in about 5% of cystic fibrosis patients and costs around $300,000 to treat each patient each year, every year for the rest of that patient's life, Blumberg said.

But, he added, "It's going to dramatically change the lives of the small handful of patients who are eligible."

Similarly, many new cancer drugs are designed to treat patients whose tumors carry certain receptors or genetic defects. These are less toxic, but the patient population who can benefit from a particular agent is narrower than with old-line chemotherapies that simply targeted rapidly proliferating cells.

The Cost

This is the paradox of precision medicine: "We're spending more and more to identify therapies that apply to fewer and fewer," Blumberg said.

A breakthrough in a common disease such as diabetes is what's needed. But, if each case costs $300,000 a year for life, "No healthcare organization, no society could afford that," he said.

"Are there better ways to spend our money? Getting people immunized against measles, that's probably better," said Blumberg. Finding a flu vaccine that targets the correct strain would also be a smart financial investment.

However, other health and policy experts see the issue differently.

Gail Wilensky, PhD, said the idea that precision medicine must align itself with population health is misunderstood.

Wilensky is an economist and senior fellow at Project Hope, who directed the Medicare and Medicaid program from 1990 to 1992.

"We don't only have to spend money on things that benefit huge numbers of people when we have interventions that benefit small numbers of people with known clinical problems for which we can effectively intervene."

Mary Woolley, president of Research!America, a nonprofit education and advocacy group for medical research, said, "Precision medicine is what we're all waiting for. It's what we need."

And when it's looked at more closely, she said, "you realize that there's a huge preventive and predictive component to it."

For example, if a patient has high blood pressure, “wouldn’t it be better to do a blood test or saliva test and know what works best the very next day?”

As the science advances such personalized care would become even easier, said Weinshilboum, a pioneer in the field of pharmacogenomics.

There are 84 known genes associated with drug interactions, he said. If a patient's genome were sequenced at birth and included in his or her electronic medical record, each time a doctor wrote a prescription, that provider could receive an alert indicating which medication would be most effective for that patient as well as any adverse reactions he or she might have.

There's a flip side to the financial concerns that Blumberg mentioned.

"The more potent and expensive the therapeutic, the more important it is to target its use to those who will benefit," Wilensky said.

Identifying genomic and proteomic characteristics in advance to help determine whether an intervention will or won't work is cost-effective, she said. And when it comes to harm reduction, "being able to target who would actually benefit becomes increasingly important."

Patients with lung cancer, for example, are already subjected to chemotherapy and expensive regimens that in many cases don't work, he said.

Discovering biomarkers helps scientists to better target those diseases. "People are therefore expected to get better faster and continue productive lives. I think that'll be the payback," he said.

"Right now all of this might seem expensive or inefficient to some people, but I'm optimistic. I think the economics of this will sort itself out over time," he said.

Devil in the Details

The exact cost and structure of Obama's Precision Medicine initiative is still unclear. A spokesperson for the White House declined to give any details. Some are expected to emerge in the coming days when the president's proposed 2016 budget is released.

As for the viability of such a plan passing through Congress, Ramamurthy is hopeful. While not everyone currently agrees on all aspects of precision medicine, he said, "The White House can use its bully pulpit to bring together a good compromise solution."

Wilensky said passage of legislation related to the initiative would depend on how it's funded. "If it's part of the the increase-taxes-on-the-rich strategy, I think it's a nonstarter, but if it has a reasonable funding mechanism, it's potentially possible."

Woolley said, "I'm feeling very optimistic on it going through and on it delivering."

A public opinion poll conducted by Research!America has shown that "at least half" of those surveyed would spend a dollar per week in taxes, if they were certain the money would fund medical research, said Woolley.

Blumberg said he's excited about the promise of precision medicine but remains cautious.

"We tend to overestimate the short-term impact of a new technology and underestimate the long-term impact," he said.

"We've over-promised on the early results of the Human Genome Project but I am convinced that over the long term there will be a lot more applications that will benefit individuals suffering from more common diseases."